Canonical Allele Identifier: CA390751575

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88450787C>G (hg19) ; chr14:g.87984443C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87984443C>G , CM000676.2:g.87984443C>G	GRCh38
NC_000014.8:g.88450787C>G , CM000676.1:g.88450787C>G	GRCh37
NC_000014.7:g.87520540C>G	NCBI36
NG_011853.2:g.14121G>C
NG_011853.3:g.14121G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.533G>C MANE Select	ENSP00000261304.2:p.Trp178Ser
ENST00000261304.6:c.533G>C	ENSP00000261304.2:p.Trp178Ser
ENST00000393568.8:c.464G>C	ENSP00000377198.4:p.Trp155Ser
ENST00000393569.6:c.455G>C	ENSP00000377199.2:p.Trp152Ser
ENST00000474294.6:n.523G>C
ENST00000544807.6:c.365G>C	ENSP00000437513.2:p.Trp122Ser
ENST00000554372.5:c.*282G>C	ENSP00000451884.1:n.*282G>C
ENST00000554916.5:n.412G>C
ENST00000556261.5:n.234G>C
ENST00000556879.5:c.593G>C	ENSP00000452208.1:n.593G>C
ENST00000557316.5:c.533G>C	ENSP00000452314.1:p.Trp178Ser
ENST00000622264.4:c.523G>C
NM_000153.3:c.533G>C	NP_000144.2:p.Trp178Ser
NM_001201401.1:c.464G>C	NP_001188330.1:p.Trp155Ser
NM_001201402.1:c.455G>C	NP_001188331.1:p.Trp152Ser
XM_011536618.1:c.365G>C	XP_011534920.1:p.Trp122Ser
XM_011536618.2:c.365G>C	XP_011534920.1:p.Trp122Ser
NM_000153.4:c.533G>C MANE Select	NP_000144.2:p.Trp178Ser
NM_001201401.2:c.464G>C	NP_001188330.1:p.Trp155Ser
NM_001201402.2:c.455G>C	NP_001188331.1:p.Trp152Ser